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Full registry entry

Patient Id

 URHA139

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 14

Affected Codon

 1690

Affected nucleotide

 5127

Mutation AA

 S1690R

Mutation Nuc

 5127C>A

Original-final codons

 AGC>AGA

Affected domain

 -

Refrence

 -

AA change

 Ser>Arg

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 20

FactorAg(%)

 -

Origin

  

ID

 146

 

   
 

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